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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 17, 2026
Specification of frequency criteria for secondary findings genes to improve variant classification concordance
Jennifer J Johnston, Kristy Lee, Deborah I Ritter, et al.
The Journal of Urology
|
June 20, 2014
DNA copy number variations in patients with 46,XY disorders of sex development
Steven M Harrison, Candace F Granberg, Melise Keays, et al.
The Journal of Urology
|
November 26, 2011
Genetic basis of prune belly syndrome: screening for HNF1β gene
Candace F Granberg, Steven M Harrison, Daniel Dajusta, et al.
The Journal of Molecular Diagnostics : JMD
|
August 13, 2021
Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project
Emma Wilcox, Steven M Harrison, Edward Lockhart, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Response to McGurk et al
Michael H Gollob, Ray E Hershberger, Adam S Gordon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 24, 2019
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement
Annie Niehaus, Danielle R Azzariti, Steven M Harrison, et al.
Human Mutation
|
September 8, 2018
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, et al.
Genome Medicine
|
July 2, 2025
Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing
Jennifer Herrera-Mullar, Carolyn Horton, Amybeth Weaver, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
Gwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
Gwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
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of 7
Search research articles
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Showing results (11-20 of 63) with videos related to
Sort By:
Page
of 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 17, 2026
Specification of frequency criteria for secondary findings genes to improve variant classification concordance
Jennifer J Johnston, Kristy Lee, Deborah I Ritter, et al.
The Journal of Urology
|
June 20, 2014
DNA copy number variations in patients with 46,XY disorders of sex development
Steven M Harrison, Candace F Granberg, Melise Keays, et al.
The Journal of Urology
|
November 26, 2011
Genetic basis of prune belly syndrome: screening for HNF1β gene
Candace F Granberg, Steven M Harrison, Daniel Dajusta, et al.
The Journal of Molecular Diagnostics : JMD
|
August 13, 2021
Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project
Emma Wilcox, Steven M Harrison, Edward Lockhart, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2021
Response to McGurk et al
Michael H Gollob, Ray E Hershberger, Adam S Gordon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 24, 2019
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement
Annie Niehaus, Danielle R Azzariti, Steven M Harrison, et al.
Human Mutation
|
September 8, 2018
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, et al.
Genome Medicine
|
July 2, 2025
Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testing
Jennifer Herrera-Mullar, Carolyn Horton, Amybeth Weaver, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
Gwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
Gwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Page
of 7